ZFIN Human Disease: immunodeficiency 42

OBO ID: DOID:0111940

Term Name:	immunodeficiency 42		Search Ontology:
Synonyms:	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency autosomal recessive MSMD due to complete RORgamma receptor defiency autosomal recessive primary immunodeficiency due to RORC mutation IMD42
Definition:	A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. https://pubmed.ncbi.nlm.nih.gov/26160376/
References:	OMIM:616622 ORDO:477857
Ontology:	Human Disease ( DOID:0111940 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 42 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RORC	rorcb rorca rorc	Immunodeficiency 42	616622

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None